Canonical Allele Identifier: CA379786828

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417223A>G (hg19) ; chr11:g.17395676A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395676A>G , CM000673.2:g.17395676A>G	GRCh38
NC_000011.9:g.17417223A>G , CM000673.1:g.17417223A>G	GRCh37
NC_000011.8:g.17373799A>G	NCBI36
NG_008867.1:g.86227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3842T>C
ENST00000528374.2:c.832T>C
ENST00000529967.6:n.2580T>C
ENST00000532220.2:n.3474T>C
ENST00000642611.2:n.5574T>C
ENST00000644057.2:n.817T>C
ENST00000645004.2:n.1740T>C
ENST00000682051.1:n.4403T>C
ENST00000682110.1:n.4456T>C
ENST00000682140.1:c.*27T>C	ENSP00000507829.1:n.*27T>C
ENST00000682185.1:n.5546T>C
ENST00000682204.1:c.*2379T>C	ENSP00000507094.1:n.*2379T>C
ENST00000682215.1:n.4823T>C
ENST00000682288.1:c.*2672T>C	ENSP00000507506.1:n.*2672T>C
ENST00000682442.1:n.4676T>C
ENST00000682528.1:n.4533T>C
ENST00000682673.1:n.4400T>C
ENST00000682805.1:n.4861T>C
ENST00000682965.1:c.*663T>C	ENSP00000508229.1:n.*663T>C
ENST00000683093.1:n.5540T>C
ENST00000683136.1:c.4124T>C	ENSP00000507768.1:p.Leu1375Pro
ENST00000683153.1:n.4498T>C
ENST00000683365.1:n.4558T>C
ENST00000683377.1:n.4456T>C
ENST00000683456.1:c.*1378T>C	ENSP00000508318.1:n.*1378T>C
ENST00000683522.1:n.4456T>C
ENST00000683562.1:c.*2410T>C	ENSP00000508265.1:n.*2410T>C
ENST00000683693.1:n.6021T>C
ENST00000683725.1:c.4241T>C	ENSP00000507496.1:p.Leu1414Pro
ENST00000684010.1:n.4451T>C
ENST00000684157.1:n.5441T>C
ENST00000684253.1:n.4359T>C
ENST00000684288.1:c.*2413T>C	ENSP00000507143.1:n.*2413T>C
ENST00000684313.1:n.3888T>C
ENST00000684332.1:n.4529T>C
ENST00000684371.1:n.4562T>C
ENST00000684404.1:n.5484T>C
ENST00000684442.1:n.4680T>C
ENST00000684555.1:c.*2453T>C	ENSP00000507705.1:n.*2453T>C
ENST00000684571.1:c.4082T>C	ENSP00000506935.1:p.Leu1361Pro
ENST00000684593.1:c.*3946T>C	ENSP00000507005.1:n.*3946T>C
ENST00000684711.1:c.*2637T>C	ENSP00000506841.1:n.*2637T>C
ENST00000302539.9:c.4244T>C	ENSP00000303960.4:p.Leu1415Pro
ENST00000389817.8:c.4241T>C MANE Select	ENSP00000374467.4:p.Leu1414Pro
ENST00000642271.1:c.4238T>C	ENSP00000493749.1:p.Leu1413Pro
ENST00000642579.1:c.2295T>C
ENST00000642611.1:n.5459T>C
ENST00000642902.1:c.4023T>C
ENST00000643260.1:c.4241T>C	ENSP00000494450.1:p.Leu1414Pro
ENST00000643562.1:c.*2363T>C	ENSP00000496124.1:n.*2363T>C
ENST00000643925.1:c.2881T>C
ENST00000644057.1:n.318T>C
ENST00000644484.1:c.*3627T>C	ENSP00000493558.1:n.*3627T>C
ENST00000644675.1:c.*2413T>C	ENSP00000494567.1:n.*2413T>C
ENST00000644757.1:c.*3202+588T>C	ENSP00000495085.1:n.*3202+588T>C
ENST00000644772.1:c.4307T>C	ENSP00000494321.1:p.Leu1436Pro
ENST00000645004.1:n.1934T>C
ENST00000645076.1:c.3440T>C
ENST00000645417.1:c.1429T>C
ENST00000645744.1:c.*3964-38T>C	ENSP00000494564.1:n.*3964-38T>C
ENST00000645760.1:c.4662T>C
ENST00000645884.1:c.*1524T>C	ENSP00000495516.1:n.*1524T>C
ENST00000646003.1:c.*2301-38T>C	ENSP00000495259.1:n.*2301-38T>C
ENST00000646207.1:c.*3078T>C	ENSP00000495025.1:n.*3078T>C
ENST00000646276.1:c.*3645T>C	ENSP00000496070.1:n.*3645T>C
ENST00000646592.1:c.3547T>C
ENST00000646902.1:c.4208T>C	ENSP00000494101.1:p.Leu1403Pro
ENST00000646993.1:c.*2783T>C	ENSP00000493720.1:n.*2783T>C
ENST00000647013.1:c.4247T>C	ENSP00000496741.1:n.4247T>C
ENST00000647015.1:c.3992T>C	ENSP00000495389.1:p.Leu1331Pro
ENST00000647086.1:c.*3827T>C	ENSP00000493677.1:n.*3827T>C
ENST00000647158.1:c.*2528T>C	ENSP00000495744.1:n.*2528T>C
ENST00000302539.8:c.4244T>C	ENSP00000303960.4:p.Leu1415Pro
ENST00000389817.7:c.4241T>C	ENSP00000374467.3:p.Leu1414Pro
ENST00000525022.1:n.240T>C
ENST00000526037.5:n.105T>C
ENST00000526168.5:c.67-38T>C
ENST00000531642.5:c.77T>C
NM_000352.4:c.4241T>C	NP_000343.2:p.Leu1414Pro
NM_001287174.1:c.4244T>C	NP_001274103.1:p.Leu1415Pro
XM_011520331.1:c.4241T>C	XP_011518633.1:p.Leu1414Pro
XM_011520332.1:c.4244T>C	XP_011518634.1:p.Leu1415Pro
XM_011520333.1:c.2741T>C	XP_011518635.1:p.Leu914Pro
XR_930890.1:n.4307T>C
NM_001351295.1:c.4307T>C	NP_001338224.1:p.Leu1436Pro
NM_001351296.1:c.4241T>C	NP_001338225.1:p.Leu1414Pro
NM_001351297.1:c.4238T>C	NP_001338226.1:p.Leu1413Pro
NR_147094.1:n.4536T>C
XM_017018197.2:c.4310T>C	XP_016873686.1:p.Leu1437Pro
XM_017018199.1:c.4307T>C	XP_016873688.1:p.Leu1436Pro
XM_017018201.2:c.4310T>C	XP_016873690.1:p.Leu1437Pro
XM_017018202.1:c.2807T>C	XP_016873691.1:p.Leu936Pro
XM_017018204.1:c.2198T>C	XP_016873693.1:p.Leu733Pro
XM_024448668.1:c.2609T>C	XP_024304436.1:p.Leu870Pro
XR_001747945.2:n.4382T>C
XR_001747946.2:n.4313T>C
XR_002957189.1:n.6096T>C
NM_000352.6:c.4241T>C MANE Select	NP_000343.2:p.Leu1414Pro
NM_001287174.2:c.4244T>C	NP_001274103.1:p.Leu1415Pro
NM_001351295.2:c.4307T>C	NP_001338224.1:p.Leu1436Pro
NM_001351296.2:c.4241T>C	NP_001338225.1:p.Leu1414Pro
NM_001351297.2:c.4238T>C	NP_001338226.1:p.Leu1413Pro
NR_147094.2:n.4536T>C
NM_001287174.3:c.4244T>C	NP_001274103.1:p.Leu1415Pro